Stepwise developmental regression associated with novel CACNA1A mutation.
Mutations in CACNA1A were previously described in familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6. We report on an 11-year-old girl with episodes of seizures, ataxia, headache, a decreased level of consciousness, and motor regression, with a background of mental retardation and mild cerebellar atrophy. Sequence analysis of the CACNA1A gene revealed a de novo Ile712Val sequence variant, which was not reported previously.
Guerin
Andrea A
AA
Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Canada.
Feigenbaum
Annette
A
Donner
Elizabeth J
EJ
Yoon
Grace
G
D001259:Ataxia / Q000235:genetics*; D015220:Calcium Channels / Q000235:genetics*; D002648:Child; D003244:Consciousness Disorders / Q000235:genetics; D004827:Epilepsy / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D020325:Migraine with Aura / Q000235:genetics; D020125:Mutation, Missense; D020864:Calcium Channels, N-Type
D015220:Calcium Channels; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type